During the 11 years Sonja MacDonald and her family lived with her spells, they had planned what to do when she sensed — or they observed — one coming on.
If she was driving, MacDonald was to pull over to the side of the road; her husband had taught their young children how to take the wheel if she was unable to steer, something that luckily never happened. When she took a shower, someone was always in the bathroom, in case she suddenly passed out. And if it happened in the nursing home where she worked, MacDonald gambled on being able to make it to an empty bed.
Over the years doctors had given the Milton, Pa., resident various diagnoses for the episodes, which she said began with an aura — an odd feeling of disorientation sometimes tinged with fear. She would stare blankly, sometimes grasping at unseen objects or briefly losing consciousness. These incidents, which lasted two minutes at most, occurred without warning, leaving her feeling tired and cold but with no memory of what had just happened.
Most specialists agreed that the spells were seizures that sometimes follow a migraine headache. But how, MacDonald wondered, could she have migraine seizures when the occasional headaches she had were not severe? Doctors brushed that question aside, and MacDonald resigned herself to living with whatever was wrong.
“I told my husband, ‘I will not go back to another doctor. I guess when I drop over someone will believe me,’ ” said MacDonald, now 39.
In 2009, a new neurologist took a fresh look at her case and in short order figured out what was wrong. The answer, this doctor subsequently learned, had been buried in MacDonald’s records for years.
MacDonald was picking up her infant son in 1998 when the first episode occurred. As she reached into the crib, the left side of her body suddenly went numb and she felt frozen in place. The episode was over in a matter of seconds, but she was spooked. MacDonald called her family doctor, who suggested she might have experienced a transient ischemic attack. Sometimes called a mini stroke, a TIA causes no permanent damage, but it can be a harbinger of a disabling stroke. She underwent an MRI scan, which revealed no sign of a TIA.
Several months later, after the episodes recurred, a neurologist ordered another MRI, which suggested an ominous cause: a brain lesion. MacDonald was advised to see a neurosurgeon immediately because she might have a malignant brain tumor. After several anxious weeks she learned the lesion was simply a blood vessel.
But doctors were unable to explain the recurring episodes. “I would feel a spell coming on starting with a weird feeling that I really can’t describe,” she recalled. “My husband said I would get a blank stare and sometimes I would reach out a grab at things or ramble about the laundry” — saying things that made no sense — or smack her lips. MacDonald had no memory of the spells. Her doctors were baffled because tests including electroencephalographs and various scans revealed nothing. “I let it go,” MacDonald said.
Around 2002 a neurologist decided that the events were seizures, possibly triggered by migraines. “I got headaches sometimes, but I wouldn’t call them migraines,” MacDonald said. The neurologist prescribed phenobarbital, an anti-seizure drug that was once the mainstay of epilepsy treatment, but has been eclipsed by newer drugs with fewer side effects. After six weeks, MacDonald said, she stopped taking the drug because it did not control the spells and made her feel wretched.
A year later and no better, she consulted a neurologist at a large teaching hospital in Pennsylvania. His diagnosis: multiple sclerosis, which seemed less likely after MacDonald underwent a spinal tap that was found to be normal.
In 2004 she drove three hours to a second teaching hospital, this one in Maryland, for another opinion; a neurologist there told her she didn’t have MS; he suspected the problem was migraine seizures, a diagnosis reiterated by doctors who saw her later, and put her on headache medicines.
“I just didn’t know what to think, and I would sometimes argue with the doctors and tell them that the medications were giving me migraines, but no one seemed to listen,” MacDonald recalled.
The best thing to do, she decided, was tough it out. As the spells increased in frequency, they began occurring in her sleep. MacDonald said her husband, a prison guard, told her she would sit bolt upright in bed; he tried to capture evidence of the incidents, but by the time he fumbled for his cellphone or grabbed a video camera they were over.
By 2009, the episodes had taken over MacDonald’s life. She had been sent to a nearby emergency room several times from work after she fainted — doctors invariably found nothing — and MacDonald said she was “afraid to go anywhere. What if something happened if I was in a store?”
Once she had a spell in a grocery store checkout line, which she found acutely embarrassing. Driving was a constant concern, and it was clear that toughing it out was not working. Reluctantly she agreed to see a new doctor; privately she doubted he’d be any more helpful than the others.
At her first appointment, in September 2009, Frank Gilliam, chief of neurology at Geisinger Health System in Danville, Pa., told MacDonald and her husband that he wanted her to undergo a specialized video EEG test that required continuous monitoring in the hospital. The test would require a 10-day stay — maybe longer — to adequately capture images of the seizures and measure her brainwaves. Then he told the couple he suspected he knew what was wrong.
MacDonald was admitted to the hospital on Oct. 19. The next morning Gilliam told her that shortly after she had fallen asleep, she’d had a seizure. “I was stunned,” she recalled. “I didn’t even remember it.”
After recording more seizures during the next two nights, Gilliam made his diagnosis and sent her home: MacDonald had a form of epilepsy known as complex partial seizures, once called temporal lobe epilepsy. The diagnosis, he said, actually appeared in her records six years earlier when she was prescribed phenobarbital, but inexplicably it was not pursued after the drug failed to work and she stopped taking it.
“I don’t think she ever had migraines,” although roughly 30 percent of people with epilepsy do, said Gilliam, an epilepsy specialist. MacDonald’s symptoms, he said, were “pretty textbook” for complex partial seizures: the aura, followed by a blank stare, gibberish and lip-smacking.
The mortality rate for people with complex partial seizures is two to three times greater than for the general population, in some cases because they sustain serious injuries from falls or other accidents, according to an article in the online medical encyclopedia eMedicine. Head trauma and infection can trigger these seizures, which impair awareness and can result in a temporary loss of consciousness. In other cases, such as MacDonald’s, there is no apparent cause.
MacDonald said her initial reaction was relief. “I don’t want to say I was happy, but I was glad there was an answer. I’d gone through this for 11 years.”
Gilliam said that some of his patients have had undiagnosed complex partial seizures for as long as 15 years. “I’ve seen two people in the past week that are exactly like [MacDonald’s] case,” he said. The difficulty patients have describing the episodes, along with their brevity, may contribute to delayed diagnosis, Gilliam observed. And among some physicians, he added, there is a “lackadaisical attitude” about finding the correct diagnosis.
Having epilepsy meant an immediate ban on driving — MacDonald could not drive until she was seizure-free for six months — and a trial of various potent drugs, none of which controlled her seizures. One option when medications fail is surgery to remove the part of the brain where seizures originate, a procedure that can result in a stroke or even sudden death.
MacDonald said she was eager to have the operation on the chance that it would end the spells that had consumed her life. On Feb. 2, 2010, she underwent a 10-hour procedure called a craniotomy temporal lobectomy; neurosurgeons removed a portion of her hippocampus to try to quell the episodes.
MacDonald has been seizure-free ever since and takes drugs in diminishing doses; she expects to be weaned completely from the medications in the next year. She said she will be forever grateful to Gilliam for figuring out what was wrong, putting an end to 11 years of frustration and fear. “How can you repay somebody for giving you your life back?”
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